Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
Fecha de publicación:
Fecha Ahead of Print:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Hall CL
- Akhtar MM
- Sabater-Molina M
- Futema M
- Asimaki A
- Protonotarios A
- Dalageorgou C
- Pittman AM
- Suarez MP
- Aguilera B
- Hernández JP
- Pastor F
- Syrris P
- McKenna WJ
Grupos
Abstract
Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic cardiomyopathy (ACM) and investigated the disease mechanism at a molecular level.
Datos de la publicación
- ISSN/ISSNe:
- 0167-5273, 1874-1754
- Tipo:
- Article
- Páginas:
- 101-108
- PubMed:
- 31627847
- Factor de Impacto:
- 1,406 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
International Journal of Cardiology ELSEVIER IRELAND LTD
Citas Recibidas en Web of Science: 60
Documentos
- No hay documentos
Filiaciones
Keywords
- ARVC, Arrhythmogenic cardiomyopathy, Filamin C variants, Immunohistochemistry, Late gadolinium enhancement
Portal de investigación